GTR Home > Conditions/Phenotypes > Juvenile GM>1< gangliosidosis

Summary

GM1-gangliosidosis type II is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II is usually not associated with macular cherry-red spots or organomegaly. Within type II, those with somewhat earlier onset and earlier death are considered to have the 'late-infantile' form, whereas those with slightly later onset and survival into late childhood are referred to as having the 'juvenile' form (Caciotti et al., 2003). However, there is no strict age marker to distinguish between these 2 type II forms. GLB1 enzyme activity in type II ranges from approximately 1 to 4% of control values (Nishimoto et al., 1991; Yoshida et al., 1991). [from OMIM]

Available tests

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Associated genes

Clinical features

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  • Coxa valga
  • Gait disturbance
  • Developmental stagnation
  • Progressive psychomotor deterioration
  • Platyspondyly
  • Abnormality of the face
  • Optic atrophy
  • Ataxia
  • Abnormality of the liver
  • Abnormality of the spleen
  • Sea-blue histiocytosis
  • Cerebral atrophy
  • Ventriculomegaly
  • Generalized myoclonic seizures
  • Spastic tetraplegia
  • Decreased beta-galactosidase activity
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